{"orpha":56970,"name":"Human prion disease","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["TSE","Transmissible spongiform encephalopathy"],"definition":"A group of rare neurodegenerative diseases characterized by the accumulation of prions, abnormal variants of the cellular prion protein, primarily in brain tissue of affected individuals, as well as massive, rapid neuronal death, and an invariably fatal course. Human prion diseases most often occur sporadically but may also be of genetic origin or infectiously acquired. Irrespective of etiology, they are transmissible to other individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-56970/","orphanet_url":"https://www.orpha.net/en/disease/detail/56970","names":{"fr":{"name":"Maladie humaine à prions","synonyms":["EST","Encéphalopathie spongiforme transmissible"],"definition":"Groupe de maladies neurodégénératives rares caractérisé par l'accumulation de prions (variants anormaux de la forme cellulaire de la protéine prion), principalement dans le tissu cérébral des patients, ainsi que par la destruction massive et rapide des neurones et par une évolution toujours létale. Les maladies humaines à prions surviennent le plus souvent de manière sporadique, mais elles peuvent aussi être d'origine génétique ou infectieuse. Quelle que soit l'étiologie, ces maladies sont transmissibles."},"de":{"name":"Humane Prionkrankheit","synonyms":["Enzephalopathie, spongiforme transmissible","TSE"],"definition":"Eine Gruppe seltener neurodegenerativer Erkrankungen, die durch die Anhäufung von Prionen, abnormen Varianten des zellulären Prionproteins, vor allem im Hirngewebe der betroffenen Personen sowie durch ein massives, rasches Absterben von Nervenzellen und einen ausnahmslos tödlichen Verlauf gekennzeichnet sind. Menschliche Prionkrankheiten treten am häufigsten sporadisch auf, können aber auch genetischen Ursprungs oder infektiös erworben sein. Unabhängig von der Ätiologie sind sie auf andere Personen übertragbar."},"es":{"name":"Enfermedad priónica humana","synonyms":["Encefalopatía espongiforme transmisible","TSE"],"definition":"Es un grupo de enfermedades neurodegenerativas poco frecuentes que se caracterizan por el acúmulo de priones, variantes anómalas de la proteína priónica celular, principalmente en el tejido cerebral de las personas afectas, así como por la rápida y masiva muerte neuronal y un curso invariablemente fatal. Las enfermedades priónicas humanas suelen aparecer de forma esporádica, pero también pueden ser de origen genético o infeccioso. Independientemente de la etiología, son transmisibles a otras personas."},"it":{"name":"Malattia umana da prioni","synonyms":["Encefalopatia spongiforme trasmissibile","TSE"],"definition":"Si tratta di un gruppo di malattie neurodegenerative rare, caratterizzate dall'accumulo di prioni (varianti anomale della proteina prionica cellulare) soprattutto nel tessuto cerebrale e dalla morte neuronale rapida e massiva. Il decorso è sempre letale. Di solito le malattie umane da prioni sono sporadiche, ma possono anche essere di origine genetica o acquisite per via infettiva. Indipendentemente dall'eziologia, sono trasmissibili ad altri pazienti."},"nl":{"name":"Humane prionziekte","synonyms":["Overdraagbare spongiforme encefalopathie","TSE"],"definition":"Een groep van zeldzame neurodegeneratieve aandoeningen, gekenmerkt door de accumulatie van prionen, abnormale varianten van het cellulaire prionproteïne, hoofdzakelijk in hersenweefsel van getroffen individuen, alsook door massale, snelle sterfte van neuronen, en een steevast fataal verloop. Humane prionziekten treden meestal sporadisch op, maar kunnen ook genetisch van oorsprong zijn of door infectie verworven worden. Ongeacht de etiologie kunnen ze overgedragen worden op andere individuen."},"pt":{"name":"Encefalopatias espongiformes transmissíveis"},"pl":{"name":"Pasażowalna encefalopatia gąbczasta","synonyms":["Choroba prionowa"]},"cs":{"name":"Lidská prionová onemocnění","synonyms":["TSE","Transmisivní spongiformní encefalopatie"]},"uk":{"name":"Пріонна хвороба людини","synonyms":["Трансмісивна губчаста енцефалопатія","TSE"],"definition":"A group of rare neurodegenerative diseases characterized by the accumulation of prions, abnormal variants of the cellular prion protein, primarily in brain tissue of affected individuals, as well as massive, rapid neuronal death, and an invariably fatal course. Human prion diseases most often occur sporadically but may also be of genetic origin or infectiously acquired. Irrespective of etiology, they are transmissible to other individuals."},"zh":{"name":"人朊病毒病","synonyms":["传染性海绵状脑病"]},"tr":{"name":"İnsan prion hastalığı","synonyms":["TSE","Aktarılabilir spongiform ensefalopati"]}},"xrefs":[{"source":"MONDO","code":"0018926","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18926","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017096","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162534","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079301","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]}],"children":[{"orpha":576360,"name":"Acquired human prion disease","type":"Category"},{"orpha":280400,"name":"Inherited human prion disease","type":"Category"},{"orpha":576356,"name":"Sporadic human prion disease","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}